17α-hydroxylase 결핍증에 의한 원발성 무월경 1예
A case of primary amenorrhea due to 17α-hydroxylase deficiency
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초록
저자 등은 원발성 무월경을 주소로 내원한 19세 여성에서 17α-hydroxylase 결핍에 기인한 선천성 부신증식증 1예를 경험하였기에 간단한 문헌고찰과 함께 보고하는 바이다.
Abstract
The enzyme, 17α-hydroxylase, is necessary for both cortisol and estrogen synthesis. Deficiency of the hormone results in increased adrenocorticotrophic hormone (ACTH), follicle-stimulating hormone (FSH). Synthesis of progesterone, 11-deoxycorticosterone (DOC), corticosterone and aldosterone don't require the enzyme. The lack of estrogen results in primary amenorrhea and absent sexual maturation. The replacement of dexamethasone and estrogens has lowered the blood pressure and produced feminization. A 19-year-old female had 46,XX genotype and presented amonorrhea, absence of sexual characteristics, hypertension and hypokalemia. Endocrinologic studies demonstrated increased plasma progesterone, ACTH levels and low production of 17α-hydroxyprogesterone and testosterone. We report a rare case of 17α-hydroxylase deficency with a brief history and review of the literature.(Korean J Med 62:543-547, 2002)